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Entries
Defective ABCA3 causes SMDP3
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authored
[InstanceEdit:5683687] Jassal, Bijay, 2015-03-16
created
[InstanceEdit:5683687] Jassal, Bijay, 2015-03-16
crossReference
[DatabaseIdentifier:12020948] Mondo:0700081
dbId
5683678
disease
[Disease:5683679] newborn respiratory distress syndrome
displayName
Defective ABCA3 causes SMDP3
edited
[InstanceEdit:5683687] Jassal, Bijay, 2015-03-16
eventOf
[Pathway:R-HSA-5619084] ABC transporter disorders - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5683672] Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019-03-25
literatureReference
[LiteratureReference:1368981] ABCA3 gene mutations in newborns with fatal surfactant deficiency
[LiteratureReference:5683665] Lipid transport by mammalian ABC proteins
[LiteratureReference:5683649] Role of ABC transporters in lipid transport and human disease
[LiteratureReference:5683694] Diseases of pulmonary surfactant homeostasis
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
Defective ABCA3 causes SMDP3
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
normalPathway
[Pathway:R-HSA-382556] ABC-family protein mediated transport
releaseDate
2015-12-15
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5683678
summation
[Summation:5683647] ATP-binding cassette sub-family A member 3 (ABCA3) is though...
updateTrackers
[UpdateTracker:9780044] Update Tracker - [Pathway:5683678] Defective ABCA3 causes SMDP3 - v64:[updateContainedRLE]
[UpdateTracker:9778416] Update Tracker - [Pathway:5683678] Defective ABCA3 causes SMDP3 - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9780044] Update Tracker - [Pathway:5683678] Defective ABCA3 causes SMDP3 - v64:[updateContainedRLE]
[UpdateTracker:9778416] Update Tracker - [Pathway:5683678] Defective ABCA3 causes SMDP3 - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5619084] ABC transporter disorders
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